Nonsense mutation arg197stop in a dutch family with type 1 hereditary antithrombin (AT) deficiency causing thrombophilia

By Michiels J.J.   van der Luit L.   van Vliet H.H.D.M.   Jochmans K.   Lissens W.  

Thrombosis Research, Vol. 78, Iss. 3, 1995-05 ,pp. : 251-254

Elsevier

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A Novel Splice Acceptor Site Mutation of Protein S Gene in Affected Individuals with Type I Protein S Deficiency: Allelic Exclusion of the Mutant Gene

By Nakahara M.   Iida H.   Urata M.   Fujise M.   Wakiyama M.   Kinoshita S.   Tsuda H.   Okamura T.   Yao K.   Yao T.   Hamasaki N.  

Thrombosis Research, Vol. 101, Iss. 5, 2001-03 ,pp. : 387-393

Elsevier

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A Novel Type of Mutation at the Propeptide Cleavage Site (AlA+1Thr) Causing Symptomatic Protein C Type II Deficiency

By Dodojacek R.   Hofler G.   Leschnik B.   Muntean W.  

Thrombosis Research, Vol. 100, Iss. 1, 2000-10 ,pp. : 109-113

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Three Novel Missense Mutations in Unrelated Japanese Patients with Type I and Type II Protein S Deficiency and Venous Thrombosis - Detection of an Ala601-Thr mutation in 118 out of 125 families and identification of a new Asp676-Asn mutation

By Fujimura H.   Kambayashi J.-i.   Kato H.   Sakon M.   Kawasaki T.   Ariyoshi H.   Suehisa E.   Monden M.   Miyata T.  

Thrombosis Research, Vol. 89, Iss. 4, 1998-02 ,pp. : 151-160

Elsevier

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A patient with pseudohypoaldosteronism type II caused by a novel mutation in WNK4 gene

By Gong Hui  

Endocrine Journal, Vol. 33, Iss. 3, 2008-06 ,pp. : 230-234

Humana Press, Inc

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